International Journal of Advanced Research and Publications (2456-9992)

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Genetically-Proven Spinocerebellar Ataxia 2 In A 41-Year Old Filipina: A Case Report

Volume 4 - Issue 4, April 2020 Edition
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Jessica Leika R. Matibag, MD, Eri Uematsu, MD, Cid Czarina E. Diesta, MD, FPNA
Ataxia, Ataxin-2, CAG Expansion, Spinocerebellar ataxia 2.
Introduction. Spinocerebellar ataxia is a group of neurodegenerative disorders characterized by varied clinical presentation of cerebellar dysfunction to cognitive impairment, caused by a CAG trinucleotide repeat expansion. Case presentation. This is a case report of a 41-year old Filipina with a 3-year history of gait imbalance and dysarthria with progression of cerebellar dysfunction overtime associated with cognitive dysfunction, and 3-tier family history of ataxia. On physical examination, there were fasciculations of risorius muscle and tongue with noted atrophy, hyporeflexia and extremity ataxia. Extensive work-up showed normal findings hence exclusion of acquired causes of cerebellar ataxias. The patient was then diagnosed to have Spinocerebellar Ataxia 2 based on the genetic testing and is the first reported in the Philippines. Conclusion. This is the first reported genetically-positive Spinocerebellar Ataxia 2 in the Philippines. The rarity of this disease and scarcity of genetic testing in the country warrants further investigation for treatment advances in the future
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